When Sam Buck was two years old, he was jumping up and down on the bed and decided to jump off.
Despite landing on two layers of carpeting, Sam lost consciousness and remained unresponsive for about 30 seconds.
Once he woke up, his parents, Allyson and Nick, tried to stand him up, but he collapsed. They tried again, but his legs seemed to be unable to support the weight of his body.
Sam would never walk again.
For six weeks, the family from Greenwich, Connecticut – who at the time lived in London – were not given answers as to what was wrong with Sam, now seven.
Finally, after a CAT scan and an MRI were performed, a neurologist diagnosed him with vanishing white matter disease, a rare genetic brain disorder that deteriorates the central nervous system.
Those diagnosed can suffer from seizures, loss of motors skills, blindness and, because there is no cure, death.
Sam Buck, seven (pictured), was just two years old when he was diagnosed with vanishing white matter disease, a rare genetic brain disorder that deteriorates the central nervous system
At the time, Sam (left and right) was jumping up and down on the bed when he decided to jump off. He lost consciousness despite landing on two layers of carpeting. When his parents tried to stand him up, he would collapse
The diagnosis was a shock to Allyson and Nick. Their son had not shown any symptoms that he was suffering from the disease.
‘He was clumsy, he used to trip a lot, but he was walking, running just like any other normal two-year-old,’ Allyson told Daily Mail Online.
But that’s how vanishing white matter disease (VWM) works. Symptoms are triggered by any minor stress such as an infection with fever or head trauma.
Over time, myelin, a white, fatty substance that insulates nerve fibers in the brain, begins to disappear.
Without myelin, nerves throughout the body deteriorate and the signals the brain sends to the body are slowed or blocked. Slowly, the white matter in the brain is replaced with water.
The disease is rare, with only 250 known cases in the world, and genetic, meaning that Allyson and Nick’s two other children each have a 25 percent chance of inheriting the disease.
Sam has limited motor capabilities. He needs a wheelchair to navigate – holding onto others if he stands – he speaks slowly and his hands often shake.
When he’s eating, he can choke because his muscles are losing the ability to control his swallowing.
After six weeks of testing, CAT scans and MRIs, Sam was diagnosed with VWM disease, which causes the white matter that protects nerve fibers in the brain to disappear. There is no cure
It’s rare, with only 250 known cases in the world, and genetic, meaning that Allyson and Nick’s two other children each have a 25 percent chance of inheriting the disease (Pictured, back row: Nick and Allyson; front row: James, Imogen, and Sam)
Sam has limited motor capabilities. He needs a wheelchair to navigate – holding onto others if he stands – he speaks slowly and his hands often shake (Pictured, left to right: James, Sam and Imogen)
And although his cognitive functions have not regressed, Sam has learning disabilities. He cannot read or write and he suffers from short-term memory loss.
Allyson says that this means it takes Sam a long time to eat, he has to be moved from room to room and she has to change his diapers.
The couple’s nine-year-old son, James, and 11-year-old daughter, Imogen, have also stepped up to help care for their brother.
Allyson says they get clothes for Sam, they’ll feed him and even help him take a shower.
‘They’ve been fantastic,’ Allyson said.
‘Sam can’t do anything for himself. So little things like getting him a cup of water, so I don’t have to stop making dinner.
‘They help get him washed up, soaped up and cleaned. Obviously they can’t lift him or carry him around but everything that is within their physical capabilities they do.’
Further symptoms of the disease have manifested themselves, however.
Sam falls over a lot while sitting. He has to sit on his knees but even on his knees will lose his balance.
Although his cognitive functions have not regressed, Sam has learning disabilities. He cannot read or write and he suffers from short-term memory loss (Pictured, back row: James and Allyson; front row: Imogen and Sam)
Symptoms of the disease have begun to manifest further. Sam (in chair) falls over a lot while sitting and he’s begun to choke more when he swallows
The average life expectancy of VWM patients has been measured at five to ten years from onset of the disease when diagnosed in early childhood so Allyson says the family wants to give Sam (pictured, left and right, with dad) as many experiences as they can
The Bucks have started the VWM Families Foundation to help families with children suffering from the disease cover costs and to raise money for research
He’s begun to choke more when he swallows, leading Allyson and Nick to wonder if he’ll need a feeding tube.
And, in the last year, Sam has had a few absence seizures, which involve brief, sudden lapses of consciousness, although they don’t require medication.
The average life expectancy of VWM patients has been measured at five to ten years from onset of the disease when diagnosed in early childhood.
And so Allyson says the family doesn’t put things off anymore or say ‘we’ll do it when the kids are older’ because they don’t know how much time is left.
‘We feel so fortunate that he’s even here. We try to give him as many experiences as we can,’ she said.
‘We’re trying hit all 50 states. So far we’ve hit 39. Or if it’s field day at school, we put him on our back so he can participate in the games. We just do as much as we can so he feels like any normal child within the confines of his disability.’
The Bucks also started a charity, the VWM Families Foundation, to help families with children suffering from the disease help with costs not covered by insurance.
This includes buying equipment like feeding chairs and bath chairs or installing ramps in somebody’s home.
They’re also currently working to raise money for vital research with a goal of $2million.
What is Vanishing White Matter disease and how can it be treated?
Vanishing White Matter (VWM) disease is a recessive genetic disorder that occurs mainly in children.
If both parents are carriers, then there is a 25 percent chance the child will have the disease.
VWM causes myelin, known as ‘white matter’, to deteriorate and it is gradually replaced with water.
The disease is normally triggered from physical stress on the body such as a an infection with fever hit to the head.
Importance of white matter:
White matter, or myelin, is a white, fatty substance that insulates nerve fibers in the brain.
Without myelin, nerves throughout the body deteriorate and the signals the brain sends to the body are slowed or blocked.
Signs and Symptoms:
- Balance problems
- Loss of vision
- Loss of eyesight
- Stiffness in muscles
- Muscle spasms
The brain disease is so rare that there is no known cure.
Doctors can prescribe medication that can help manage some of the symptoms that the person is experiencing.
Physical therapy is also an option for those experiencing muscle spasms or stiffness.
Prominence in the world:
There are only 250 known cases in the world of VWM disease.
People in the past have been misdiagnosed to have multiple sclerosis when they actually had vanishing white matter disease.
Source: Dr Ali Fatemi, director of the division of neurogenetics at the Moser Center for Leukodystrophies and the United Leukodystrophy Foundation